Canonical Allele Identifier: CA1947827573

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757343A= , CM000673.2:g.1757343A=	GRCh38
NC_000011.9:g.1778573A= , CM000673.1:g.1778573A=	GRCh37
NC_000011.8:g.1735149A=	NCBI36
NG_008655.1:g.11650T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.685T= MANE Select	NP_001900.1:p.Phe229=
ENST00000236671.7:c.685T= MANE Select	ENSP00000236671.2:p.Phe229=
NM_001909.4:c.685T=	NP_001900.1:p.Phe229=
ENST00000236671.6:c.685T=	ENSP00000236671.2:p.Phe229=
ENST00000367196.3:c.580T=	ENSP00000356164.3:p.Phe194=
ENST00000367196.4:c.580T=	ENSP00000356164.4:p.Phe194=
ENST00000427721.2:c.85T=	ENSP00000415840.2:p.Phe29=
ENST00000427721.3:c.110T=
ENST00000429746.2:c.580T=	ENSP00000402586.2:p.Phe194=
ENST00000433655.5:c.685T=	ENSP00000404902.1:p.Phe229=
ENST00000433655.6:c.685T=	ENSP00000404902.1:p.Phe229=
ENST00000438213.5:c.640T=	ENSP00000415036.1:p.Phe214=
ENST00000438213.6:c.685T=	ENSP00000415036.2:p.Phe229=
ENST00000636397.1:c.685T=	ENSP00000489910.1:p.Phe229=
ENST00000636571.1:c.664T=	ENSP00000490770.1:p.Phe222=
ENST00000636615.1:c.685T=	ENSP00000490014.1:p.Phe229=
ENST00000636843.1:c.679T=	ENSP00000490897.1:p.Phe227=
ENST00000637158.1:n.283T=
ENST00000637381.2:n.3113T=
ENST00000637387.1:c.685T=	ENSP00000490598.1:p.Phe229=
ENST00000637815.2:c.685T=	ENSP00000490344.1:p.Phe229=
ENST00000637915.1:c.685T=	ENSP00000490471.1:p.Phe229=
ENST00000677300.1:n.1080T=
ENST00000678991.1:c.*546T=	ENSP00000503019.1:n.*546T=